Coarse facial features or coarse facies describes a constellation of facial features that are present in many
inborn errors of metabolism.
Features include:
* large, bulging head
* prominent scalp veins
* "saddle-like, flat bridged nose with broad, fleshy tip"
* large lips and tongue
* small, widely spaced and/or malformed teeth
* hypertrophic alveolar ridges and/or gums
Heads tend to be longer than normal from front to back, with a bulging forehead. This is because of the earlier than normal or premature fusion of skull bones in an affected individual.
Causes
Several conditions are associated with coarse facial features.
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Acromegaly
Acromegaly is a disorder that results from excess growth hormone (GH) after the growth plates have closed. The initial symptom is typically enlargement of the hands and feet. There may also be an enlargement of the forehead, jaw, and nose. Other ...
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Alpha-mannosidosis type II
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Aspartylglycosaminuria
Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues.
The disease is caused by a defect in an enzyme known as aspartylglucosaminida ...
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Battaglia Neri syndrome
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Börjeson–Forssman–Lehmann syndrome
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Chromosome 6q deletion syndrome
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Coarse face - hypotonia - constipation
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Congenital hypothyroidism
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Dandy–Walker malformation (with mental retardation basal ganglia disease and seizures)
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Dyggve–Melchior–Clausen syndrome
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Fucosidosis type 1
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Fucosidosis type II
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Gangliosidosis generalized GM1 (type 1)
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Gangliosidosis GM1 (type 3)
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GM1 gangliosidosis
The GM1 gangliosidoses, usually shortened to GM1, are gangliosidoses caused by mutation in the GLB1 gene resulting in a deficiency of beta-galactosidase. The deficiency causes abnormal storage of acidic lipid materials in cells of the central and p ...
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Goldberg syndrome
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Hyde-Forster-Mccarthy-Berry syndrome
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Hyper IgE
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Hypomelanosis of Ito
Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers, scales and skin and pink or blue eyes. Individuals with the condition are referred to as albino.
Varied use and interpretation of the term ...
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I cell disease
Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal storage disease family and results from a defective phosphotransferase (an enzyme of the Golgi apparatus). This enzyme transfers phosphate to ...
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Immunodeficiency due to defect in MAPBP-interacting protein
Immunodeficiency, also known as immunocompromisation, is a state in which the immune system's ability to fight infectious diseases and cancer is compromised or entirely absent. Most cases are acquired ("secondary") due to extrinsic factors tha ...
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Infantile sialic acid storage disorder
Infantile free sialic acid storage disease (ISSD) is a lysosomal storage disease. ISSD occurs when sialic acid is unable to be transported out of the lysosomal membrane and instead accumulates in the tissue, causing free sialic acid to be excrete ...
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Job syndrome
Work or labor (or labour in British English) is intentional activity people perform to support the needs and wants of themselves, others, or a wider community. In the context of economics, work can be viewed as the human activity that cont ...
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Mannosidosis (alpha B lysosomal) Mannosidosis is a deficiency in mannosidase, an enzyme. There are two types: Alpha-mannosidosis and Beta-mannosidosis.
See also
*Swainsonine
Swainsonine is an indolizidine alkaloid. It is a potent inhibitor of Golgi alpha-mannosidase II, ...
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McCune–Albright syndrome
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Mental retardation (X-linked Raynaud type)
Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by signific ...
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Miescher's syndrome
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Morquio syndrome
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Morquio syndrome type A
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Morquio syndrome type B
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MPS 3 C
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MPS 3 D
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Mucolipidosis III
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Mucopolysaccharidosis type 2 Hunter syndrome- mild form
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Mucopolysaccharidosis type 2 Hunter syndrome- severe form
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Mucopolysaccharidosis type 3
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Mucopolysaccharidosis type 6
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cel ...
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Mucopolysaccharidosis type 7 Sly syndrome
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Mucopolysaccharidosis type I Hurler syndrome
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Mucopolysaccharidosis type I Hurler/Scheie syndrome
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Mucopolysaccharidosis type I Scheie syndrome
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Multiple endocrine abnormalities - adenylyl cyclase dysfunction
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Multiple endocrine neoplasia type 2B
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Neuraminidase deficiency (type II juvenile form)
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Nodulosis–arthropathy–osteolysis syndrome
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Nonkeratan-sulfate-excreting Morquio syndrome
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Pituitary tumors (adult)
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Sialidosis type II (congenital)
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Sialidosis type II (infantile)
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Sialuria syndrome
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Simpson–Golabi–Behmel syndrome
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Simpson–Golabi–Behmel syndrome - type 1 (SGBS1)
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Skeletal dysplasia - coarse facies - mental retardation
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Spondyloepimetaphyseal dysplasia (genevieve type)
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Sulfatidosis juvenile (Austin type)
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Winchester syndrome
Winchester syndrome is a rare hereditary connective tissue disease described in 1969, of which the main characteristics are short stature, marked contractures of joints, opacities in the cornea, coarse facial features, dissolution of the carpal ...
See also
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Facies (medical)
References
External links
*https://web.archive.org/web/20090106211640/http://www.mps1disease.com/patient/about/mps_pt_symptom_coarse_facial_features.asp
Facial features
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